Summary of key studies assessing association of BC risk in RAD51C and RAD51D GPV carriers (modified and updated from Yang et al 16)
| Study | Cases | Controls | RR (95% CI) | |
| RAD51C | RAD51D | |||
| Dorling et al 8 | 48 826 population based | 50 703 | OR 1.93 (1.20 to 3.11) | 1.8 (1.11 to 2.93) |
| Hu et al 18 | 32 247 population based | 32 544 | 1.20 (0.75 to 1.93)* | 1.72 (0.88 to 3.51)* |
| Yang et al 16 | 6178 families, 125 with RAD51C GPV, and 6690 families, 60 with RAD51D GPV | – | 1.99 (1.39 to 2.85) | 1.83 (1.24 to 2.72) |
| Li et al 76 | 3080 with BC/EOC(Epithelial ovarian cancer) | 4840 | 8.7 (1.9 to 80.5) | Not applicable |
| Susynska et al 77 | Meta-analysis of published estimates | – | 1.13 (0.88 to 1.44) | 1.25 (0.9 to 1.75) |
| Castera et al 78 | 5131 with family history (FH) of BC/EOC | 571 | 1.92 (0.71 to 3.85) | 2.42 (0.36 to 7.39) |
| Huake et al 79 | 5589 eligible for mutation screening | ExAC (−27K) | OR: 1.29 to 5.91 | 3.04 (0.99 to 9.30) |
| Couch et al 80 | 38 326 eligible for mutation screening | ExAC (−27K) | 0.78 (0.47 to 1.37) | 3.07 (1.21 to 7.88) |
| Slavin et al 81 | 2135 with BC/EOC FH | ExAC (−27K) | 0.39 (0.02 to 2.41) | 8.33 (2.2 to 30.5) |
| Loveday et al 82 | 1132 families with BC/EOC FH | – | 0.91 (0.45 to 1.86) | NA |
| Loveday et al 17 | 911 families with BC/EOC FH | – | NA | 1.32 (0.58 to 2.96) |
*When assessing ER-negative BC cases (n=3805), the risk association was stronger RAD51C 2.19 (0.97–4.49) and RAD51D 3.93 (1.40–10.29).
BC, breast cancer; GPV, germline pathogenic variant; NA, not applicable.